Canonical Allele Identifier: CA357083003
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1396073513
gnomAD v2: 4-69512874-A-G
gnomAD v4: 4-68647156-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647156A>G , CM000666.2:g.68647156A>G GRCh38
NC_000004.11:g.69512874A>G , CM000666.1:g.69512874A>G GRCh37
NC_000004.10:g.69195469A>G NCBI36
NG_052676.1:g.28621T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1541T>C MANE Select ENSP00000341045.5:p.Leu514Pro
ENST00000338206.5:c.1541T>C ENSP00000341045.5:p.Leu514Pro
ENST00000616841.4:c.1541T>C ENSP00000482004.1:p.Leu514Pro
NM_001076.3:c.1541T>C NP_001067.2:p.Leu514Pro
NM_001076.4:c.1541T>C MANE Select NP_001067.2:p.Leu514Pro